Management of comorbid congenital diaphragmatic hernia and Hirschsprung disease: A case report

Abstract

Introduction

Congenital diaphragmatic hernia (CDH) and Hirschsprung disease (HD) are each rare, potentially life-threatening congenital diseases. Early recognition of combined presentation allows for optimal management.

Case presentation

A 39-week gestation male with prenatally diagnosed left-sided CDH was intubated and placed on mechanical ventilation promptly after delivery. Preoperative transthoracic echocardiogram showed signs of pulmonary hypertension, a patent foramen ovale, and mitral valve annulus hypoplasia. He underwent CDH repair with a synthetic patch on his fourth day of life and recovered well initially. However, he developed intermittent abdominal distension during advancement of enteral feeds. An abdominal x-ray suggested a distal bowel obstruction. A contrast enema raised concern for Hirschsprung disease, which was confirmed pathologically with a suction rectal biopsy at four weeks of age. He underwent a laparoscopic-assisted Swenson pull-through at five weeks of age. He recovered appropriately and was able to successfully advance to goal enteral feeds. By hospital discharge, he was on room air, oral and gavage feeds, and was spontaneously stooling without the need for rectal irrigations.

Conclusion

Concurrent congenital diaphragmatic hernia and Hirschsprung disease is exceptionally rare, but has been reported. Recognition of this possibility when feeding difficulties persist after CDH repair is key to allow proper management.